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1.
Mechanisms of infantile epileptic spasms syndrome: What have we learned from animal models?
Epilepsia
; 65(2): 266-280, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38036453
2.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32707086
3.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33029936
4.
Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.
J Neurol
; 271(6): 3063-3094, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38607431
5.
Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders.
Front Pediatr
; 11: 1172154, 2023.
Article
in English
| MEDLINE | ID: mdl-37609366
6.
Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences.
Front Pediatr
; 11: 1171920, 2023.
Article
in English
| MEDLINE | ID: mdl-37790694
7.
Startle Seizures and Diffuse Leukoencephalopathy After Resolution of Herpes Simplex Virus 1 Encephalitis in a Child.
Child Neurol Open
; 9: 2329048X221083761, 2022.
Article
in English
| MEDLINE | ID: mdl-35360486
8.
Glucose controls CREB activity in islet cells via regulated phosphorylation of TORC2.
Proc Natl Acad Sci U S A
; 105(29): 10161-6, 2008 Jul 22.
Article
in English
| MEDLINE | ID: mdl-18626018
9.
Teratoma-negative anti-NMDA receptor encephalitis presenting with a single generalized tonic-clonic seizure.
Epilepsy Behav Case Rep
; 10: 29-31, 2018.
Article
in English
| MEDLINE | ID: mdl-29977791
10.
The Keap1-Nrf2 Stress Response Pathway Promotes Mitochondrial Hyperfusion Through Degradation of the Mitochondrial Fission Protein Drp1.
Antioxid Redox Signal
; 27(18): 1447-1459, 2017 Dec 20.
Article
in English
| MEDLINE | ID: mdl-28494652
11.
High-content functional genomic screening to identify novel regulators of the PINK1-Parkin pathway.
Methods Enzymol
; 547: 1-20, 2014.
Article
in English
| MEDLINE | ID: mdl-25416349
12.
Essential role of TID1 in maintaining mitochondrial membrane potential homogeneity and mitochondrial DNA integrity.
Mol Cell Biol
; 34(8): 1427-37, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24492964
13.
ROMO1 is an essential redox-dependent regulator of mitochondrial dynamics.
Sci Signal
; 7(310): ra10, 2014 Jan 28.
Article
in English
| MEDLINE | ID: mdl-24473195
14.
Genome-wide RNAi screen identifies ATPase inhibitory factor 1 (ATPIF1) as essential for PARK2 recruitment and mitophagy.
Autophagy
; 9(11): 1770-9, 2013 Nov 01.
Article
in English
| MEDLINE | ID: mdl-24005319
15.
Transcriptional activation by MEIS1A in response to protein kinase A signaling requires the transducers of regulated CREB family of CREB co-activators.
J Biol Chem
; 284(28): 18904-12, 2009 Jul 10.
Article
in English
| MEDLINE | ID: mdl-19473990
16.
Loss of Lkb1 in adult beta cells increases beta cell mass and enhances glucose tolerance in mice.
Cell Metab
; 10(4): 285-95, 2009 Oct.
Article
in English
| MEDLINE | ID: mdl-19808021
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